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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
Amyotrophic Lateral Sclerosis 1
USH2A c.8559-2A>G
Cystic Fibrosis
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Mutation Direct
Effortless mutation search and display tool
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Search criteria:
Gene:
FTH1
& Disease:
Vitelliform Macular Dystrophy
, 8 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
305143
FTH1
c.387+12A>G
--
NM_002032.3
M
SNV
LB
5
+
1
305145
FTH1
c.161A>G
p.Lys54Arg (p.K54R)
NM_002032.3
M
SNV
LB
5
+
1
880474
FTH1
c.*336A>G
--
NM_002032.3
M
SNV
VUS
6
+
0
305134
FTH1
c.*396A>G
--
NM_002032.3
M
SNV
LB
6
+
0
305135
FTH1
c.*389A>G
--
NM_002032.3
M
SNV
LB
6
+
0
305137
FTH1
c.*319G>A
--
NM_002032.3
M
SNV
LB
6
+
0
305138
FTH1
c.*312A>G
--
NM_002032.3
M
SNV
VUS
6
+
0
305139
FTH1
c.*222C>T
--
NM_002032.3
M
SNV
B
5
+
0
8 Results, 20 per Page
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